C3基因的R102G多态性与法国人群渗出性年龄相关性黄斑变性相关。
R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.
作者信息
Zerbib Jennyfer, Richard Florence, Puche Nathalie, Leveziel Nicolas, Cohen Salomon Y, Korobelnik Jean-François, Sahel José, Munnich Arnold, Kaplan Josseline, Rozet Jean-Michel, Souied Eric H
机构信息
Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris 12, Creteil, France.
出版信息
Mol Vis. 2010 Jul 15;16:1324-30.
Abstract
PURPOSE
Major genetic factors for age-related macular degeneration (AMD) have recently been identified as susceptibility risk factors, underlying the role of the complement pathway in AMD. Our purpose was to analyze the role of the R102G polymorphism of the complement component (C3) gene in a French population, in a case-control study.
METHODS
A total of 1,080 patients with exudative AMD and 406 controls were recruited and genotyped for Y402H of complement factor H (CFH), rs10490924 of age-related maculopathy susceptibility 2 (ARMS2), and R102G of the C3 gene.
RESULTS
The distribution of the R102G genotypes was significantly different in the AMD patients compared to controls (p=0.02). The Odds Ratio compared to C/C individuals was 1.4 (95% CI 1.1-1.8) for C/G individuals and 1.4 (95% CI 0.8-2.4) for G/G individuals. In a dominant model, the adjusted Odds Ratio for carriers of the G allele is 1.4 (95% CI 1.0-1.9; p=0.03).
CONCLUSIONS
Our study shows C3 to be a moderate susceptibility gene for exudative AMD in the French population.
摘要
目的
年龄相关性黄斑变性（AMD）的主要遗传因素最近已被确定为易感性风险因素，这表明补体途径在AMD中起着重要作用。我们的目的是在一项病例对照研究中分析法国人群中补体成分（C3）基因R102G多态性的作用。
方法
共招募了1080例渗出性AMD患者和406名对照，并对补体因子H（CFH）的Y402H、年龄相关性黄斑病变易感性2（ARMS2）的rs10490924以及C3基因的R102G进行基因分型。
结果
与对照组相比，AMD患者中R102G基因型的分布存在显著差异（p=0.02）。与C/C个体相比，C/G个体的优势比为1.4（95%可信区间1.1-1.8），G/G个体的优势比为1.4（95%可信区间0.8-2.4）。在显性模型中，G等位基因携带者的调整后优势比为1.4（95%可信区间1.0-1.9；p=０.03）。
结论
我们的研究表明，在法国人群中，C3是渗出性AMD的一个中度易感性基因。
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